Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals. EXPOSURES: Genetic test results. MAIN OUTCOMES AND MEASURES: Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms. RESULTS: Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584 [365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%). CONCLUSIONS AND RELEVANCE: Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes

Complementary and alternative medicine in epilepsy: A global survey of physicians’ opinions

Purpose: To investigate the opinions of physicians on the use of complementary and alternative medicine (CAM) in patients with epilepsy (PWE) worldwide. Methods: Online survey addressed to neurologists and psychiatrists from different countries. Results: Totally, 1112 physicians from 25 countries (different world region: Europe, North America, South America, Middle-East, Africa, Former Soviet Union Republics) participated; 804 (72.3%) believed that CAM might be helpful in PWE. The most commonly endorsed CAM included meditation (41%) and yoga (39%). Female sex, psychiatry specialization, and working in North and South America were associated with the belief that CAM is helpful in PWE. Two-hundred and forty five out of 1098 participants (22.3%) used/prescribed CAM to PWE; among them, 174 (71%) people perceived CAM to be less effective and 114 (46.5%) people found CAM to be safer than conventional antiseizure medications (ASMs). The most common reasons to prescribe CAM for PWE were: to satisfy the patient (49.9%), dissatisfaction with the efficacy (35.6%), and dissatisfaction with the adverse effects (31.2%) of conventional therapies. Conclusion: Although the evidence supporting the use of CAM for the treatment of epilepsy is extremely sparse, most physicians worldwide believe that it could be integrated with the use of conventional ASMs, at least in some patients. High-quality controlled trials are warranted to provide robust evidence on the usefulness of CAM options in PWE.Fil: Asadi Pooya, Ali A.. Thomas Jefferson University; Estados UnidosFil: Brigo, Francesco. Hospital of Merano; ItaliaFil: Lattanzi, Simona. Università Politecnica Delle Marche; ItaliaFil: Karakis, Ioannis. University of Emory; Estados UnidosFil: Asadollahi, Marjan. Shahid Beheshti University Of Medical Sciences; IránFil: Trinka, Eugen. Paracelsus Medical University; Austria. Centre for Cognitive Neuroscience; AustriaFil: Talaat El Ghoneimy, Lobna. Cairo University; EgiptoFil: Pretorius, Chrisma. Stellenbosch University; SudáfricaFil: Contreras, Guilca. Hospital Metropolitano; EcuadorFil: Daza Restrepo, Anilu. La Trinidad Medical Center; VenezuelaFil: Valente, Kette. Universidade de Sao Paulo; BrasilFil: D`alessio, Luciana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina. Provincia de Buenos Aires. Ministerio de Salud. Hospital Alta Complejidad en Red El Cruce Dr. Néstor Carlos Kirchner Samic; ArgentinaFil: Turuspekova, Saule T.. Asfendiyarov Kazakh National Medical University; KazajistánFil: Aljandeel, Ghaieb. Medical City; IraqFil: Khachatryan, Samson. National Institute Of Health; ArmeniaFil: Ashkanani, Abdulaziz. Ahmadi Hospital; KuwaitFil: Tomson, Torbjörn. Karolinska Huddinge Hospital. Karolinska Institutet; SueciaFil: Kutlubaev, Mansur. Bashkir State Medical University; RusiaFil: Guekht, Alla. Pirogov Russian National Research Medical University; RusiaFil: Alsaadi, Taoufik. American Center for Psychiatry and Neurology; Emiratos Arabes UnidosFil: Calle Lopez, Yamile. Universidad de Antioquia; ColombiaFil: Mesraoua, Boulenouar. Weill Cornell Medical College; Qatar. Hamad Medical Corporation; QatarFil: Ríos Pohl, Loreto. Clinica Integral de Epilepsia Infanto-Juvenil; ChileFil: Al-Asmi, Abdullah. Sultan Qaboos University; OmánFil: Villanueva, Vicente. Hospital Universitario y Politécnico La Fe; EspañaFil: Igwe, Stanley C.. Alex Ekwueme Federal University Teaching Hospital; NigeriaFil: Kissani, Najib. Cadi Ayyad University; MarruecosFil: Jusupova, Asel. Kyrgyz State Medical Academy; Kirguistá